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Journal Articles

Genetic and environmental risks for clonal hematopoiesis and cancer

Stephanie Franco, Lucy A. Godley
Journal: Journal of Experimental Medicine
Series: Cancer Focus
J Exp Med (2024) 222 (1): e20230931.
https://doi.org/10.1084/jem.20230931
Published: 03 December 2024
View article titled, Genetic and environmental risks for clonal hematopoiesis and cancer
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Journal Articles

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Heather R. Jackson, Amedine Duret, Henry Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Oliver Powell, Sophya Yeoh, Sobia Mustafa, Dominic Habgood-Coote, Samuel Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Victoria J. Wright, Diego Estrada-Rivadeneyra, Adriana H. Tremoulet, Kirsten B. Dummer, Stejara A. Netea, Antonio Condino-Neto, Yu Lung Lau, Esmeralda Núñez Cuadros, Julie Toubiana, Marisol Holanda Pena, Frédéric Rieux-Laucat, Charles-Edouard Luyt, Filomeen Haerynck, Jean Louis Mège, Samya Chakravorty, Elie Haddad, Marie-Paule Morin, Özge Metin Akcan, Sevgi Keles, Melike Emiroglu, Gulsum Alkan, Sadiye Kübra Tüter Öz, Sefika Elmas Bozdemir, Guillaume Morelle, Alla Volokha, Yasemin Kendir-Demirkol, Betul Sözeri, Taner Coskuner, Aysun Yahsi, Belgin Gulhan, Saliha Kanik-Yuksek, Gulsum Iclal Bayhan, Aslinur Ozkaya-Parlakay, Osman Yesilbas, Nevin Hatipoglu, Tayfun Ozcelik, Alexandre Belot, Emilie Chopin, Vincent Barlogis, Esra Sevketoglu, Emin Menentoglu, Zeynep Gokce Gayretli Aydin, Marketa Bloomfield, Suzan A. AlKhater, Cyril Cyrus, Yuriy Stepanovskiy, Anastasiia Bondarenko, Fatma Nur Öz, Meltem Polat, Jiří Fremuth, Jan Lebl, Amyrath Geraldo, Emmanuelle Jouanguy, COVID-19 Human Genetic Effort, DIAMONDS, EUCLIDS, Michael J. Carter, Paul Wellman, Mark Peters, Rebeca Pérez de Diego, Lindsey Ann Edwards, Christopher Chiu, Mahdad Noursadeghi, Alexandre Bolze, Chisato Shimizu, Myrsini Kaforou, Melissa Shea Hamilton, Jethro A. Herberg, Erica G. Schmitt, Agusti Rodriguez-Palmero, Aurora Pujol, Jihoon Kim, Aurélie Cobat, Laurent Abel, Shen-Ying Zhang, Jean-Laurent Casanova, Taco W. Kuijpers, Jane C. Burns, Michael Levin, Adrian C. Hayday, Vanessa Sancho-Shimizu
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e920240699.
https://doi.org/10.1084/jem.20240699
Published: 22 November 2024
View article titled, Heterozygous <em>BTNL8</em> variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
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Includes: Supplementary data
Journal Articles

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

Elena Blanco, Carme Camps, Sameer Bahal, Mohit D. Kerai, Matteo P. Ferla, Adam M. Rochussen, Adam E. Handel, Zainab M. Golwala, Helena Spiridou Goncalves, Susanne Kricke, Fabian Klein, Fang Zhang, Federica Zinghirino, Grace Evans, Thomas M. Keane, Sabrina Lizot, Maaike A.A. Kusters, Mildred A. Iro, Sanjay V. Patel, Emma C. Morris, Siobhan O. Burns, Ruth Radcliffe, Pradeep Vasudevan, Arthur Price, Olivia Gillham, Gabriel E. Valdebenito, Grant S. Stewart, Austen Worth, Stuart P. Adams, Michael Duchen, Isabelle André, David J. Adams, Giorgia Santili, Kimberly C. Gilmour, Georg A. Holländer, E. Graham Davies, Jenny C. Taylor, Gillian M. Griffiths, Adrian J. Thrasher, Fatima Dhalla, Alexandra Y. Kreins
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20220979.
https://doi.org/10.1084/jem.20220979
Published: 19 November 2024
View article titled, Dominant negative variants in <em>ITPR3</em> impair T cell Ca<sup>2+</sup> dynamics causing combined immunodeficiency
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Includes: Supplementary data
Journal Articles

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis

Sina Ghasempour, Neil Warner, Rei Guan, Marco M. Rodari, Danton Ivanochko, Ryder Whittaker Hawkins, Ashish Marwaha, Jan K. Nowak, Yijing Liang, Daniel J. Mulder, Lorraine Stallard, Michael Li, Daniel D. Yu, Fred G. Pluthero, Vritika Batura, Mo Zhao, Iram Siddiqui, Julia E.M. Upton, Jessie M. Hulst, Walter H.A. Kahr, Roberto Mendoza-Londono, Fabienne Charbit-Henrion, Lies H. Hoefsloot, Anis Khiat, Diana Moreira, Eunice Trindade, Maria do Céu Espinheira, Isabel Pinto Pais, Marjolein J.A. Weerts, Hannie Douben, Daniel Kotlarz, Scott B. Snapper, Christoph Klein, James J. Dowling, Jean-Philippe Julien, Marieke Joosten, Nadine Cerf-Bensussan, Spencer A. Freeman, Marianna Parlato, Tjakko J. van Ham, Aleixo M. Muise
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e20240546.
https://doi.org/10.1084/jem.20240546
Published: 11 November 2024
View article titled, Human <em>ITGAV</em> variants are associated with immune dysregulation, brain abnormalities, and colitis
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Includes: Supplementary data
Journal Articles

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, Axel Cederholm, Laureline Berteloot, Audrey V. Parent, Alessandra Pescatore, Ezia Spinosa, Snezana Minic, Ana Elisa Kiszewski, Miyuki Tsumura, Chloé Thibault, Maria Esnaola Azcoiti, Jelena Martinovic, Quentin Philippot, Taushif Khan, Astrid Marchal, Bénédicte Charmeteau-De Muylder, Lucy Bizien, Caroline Deswarte, Lillia Hadjem, Marie-Odile Fauvarque, Karim Dorgham, Daniel Eriksson, Emilia Liana Falcone, Mathilde Puel, Sinem Ünal, Amyrath Geraldo, Corentin Le Floc’h, Hailun Li, Sylvie Rheault, Christine Muti, Claire Bobrie-Moyrand, Anne Welfringer-Morin, Ramsay L. Fuleihan, Romain Lévy, Marie Roelens, Liwei Gao, Marie Materna, Silvia Pellegrini, Lorenzo Piemonti, Emilie Catherinot, Jean-Christophe Goffard, Arnaud Fekkar, Aissata Sacko-Sow, Camille Soudée, Soraya Boucherit, Anna-Lena Neehus, Cristina Has, Stefanie Hübner, Géraldine Blanchard-Rohner, Blanca Amador-Borrero, Takanori Utsumi, Maki Taniguchi, Hiroo Tani, Kazushi Izawa, Takahiro Yasumi, Sotaro Kanai, Mélanie Migaud, Mélodie Aubart, Nathalie Lambert, Guy Gorochov, Capucine Picard, Claire Soudais, Anne-Sophie L’Honneur, Flore Rozenberg, Joshua D. Milner, Shen-Ying Zhang, Pierre Vabres, Dusan Trpinac, Nico Marr, Nathalie Boddaert, Isabelle Desguerre, Manolis Pasparakis, Corey N. Miller, Cláudia S. Poziomczyk, Laurent Abel, Satoshi Okada, Emmanuelle Jouanguy, Rémi Cheynier, Qian Zhang, Aurélie Cobat, Vivien Béziat, Bertrand Boisson, Julie Steffann, Francesca Fusco, Matilde Valeria Ursini, Smail Hadj-Rabia, Christine Bodemer, Jacinta Bustamante, Hervé Luche, Anne Puel, Gilles Courtois, Paul Bastard, Nils Landegren, Mark S. Anderson, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (11): e20231152.
https://doi.org/10.1084/jem.20231152
Published: 01 October 2024
View article titled, Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
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Includes: Supplementary data
Journal Articles

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

Anne Doye, Paul Chaintreuil, Chantal Lagresle-Peyrou, Ludovic Batistic, Valentine Marion, Patrick Munro, Celine Loubatier, Rayana Chirara, Nataël Sorel, Boris Bessot, Pauline Bronnec, Julie Contenti, Johan Courjon, Valerie Giordanengo, Arnaud Jacquel, Pascal Barbry, Marie Couralet, Nathalie Aladjidi, Alain Fischer, Marina Cavazzana, Coralie Mallebranche, Orane Visvikis, Sven Kracker, Despina Moshous, Els Verhoeyen, Laurent Boyer
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (10): e20231562.
https://doi.org/10.1084/jem.20231562
Published: 30 August 2024
View article titled, RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation
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Includes: Supplementary data
Journal Articles

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

In Special Collection:
Autoimmunity 2024
Marie Jeanpierre, Jade Cognard, Maud Tusseau, Quentin Riller, Linh-Chi Bui, Jérémy Berthelet, Audrey Laurent, Etienne Crickx, Marianna Parlato, Marie-Claude Stolzenberg, Felipe Suarez, Guy Leverger, Nathalie Aladjidi, Sophie Collardeau-Frachon, Christine Pietrement, Marion Malphettes, Antoine Froissart, Christine Bole-Feysot, Nicolas Cagnard, Fernando Rodrigues Lima, Thierry Walzer, Frédéric Rieux-Laucat, Alexandre Belot, Anne-Laure Mathieu
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20232337.
https://doi.org/10.1084/jem.20232337
Published: 19 July 2024
View article titled, Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus
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Includes: Supplementary data
Journal Articles

A novel STING variant triggers endothelial toxicity and SAVI disease

Erika Valeri, Sara Breggion, Federica Barzaghi, Monah Abou Alezz, Giovanni Crivicich, Isabel Pagani, Federico Forneris, Claudia Sartirana, Matteo Costantini, Stefania Costi, Achille Marino, Eleonora Chiarotto, Davide Colavito, Rolando Cimaz, Ivan Merelli, Elisa Vicenzi, Alessandro Aiuti, Anna Kajaste-Rudnitski
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20232167.
https://doi.org/10.1084/jem.20232167
Published: 02 July 2024
View article titled, A novel STING variant triggers endothelial toxicity and SAVI disease
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Includes: Supplementary data
Journal Articles

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

Clémence David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I. Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Joseph A. Marsh, Jean-Laurent Casanova, Yanick J. Crow, Bénédicte Manoury, Marie-Louise Frémond, Jonathan Bohlen, Alice Lepelley
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20232066.
https://doi.org/10.1084/jem.20232066
Published: 13 June 2024
View article titled, Gain-of-function human <em>UNC93B1</em> variants cause systemic lupus erythematosus and chilblain lupus
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Includes: Supplementary data
Journal Articles

Traffic on the TLR expressway

Justin Taft, Dusan Bogunovic
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20240841.
https://doi.org/10.1084/jem.20240841
Published: 13 June 2024
View article titled, Traffic on the TLR expressway
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Journal Articles

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

In Special Collection:
JEM Clinical Immunology Collection 2024 , Cytokines Collection 2024
Victoria E. Rael, Julian A. Yano, John P. Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A. Turcotte, Jacob M. Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily G. Farrow, Janda L. Jenkins, Mara L. Becker, Stephen C. Wong, Anne M. Stevens, Catherine Otten, Eric J. Allenspach, Devon E. Bonner, Jonathan A. Bernstein, Matthew T. Wheeler, Robert A. Saxton, Undiagnosed Diseases Network, Bo Liu, Olivia Majer, Gregory M. Barton
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20232005.
https://doi.org/10.1084/jem.20232005
Published: 23 May 2024
View article titled, Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
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Includes: Supplementary data
Journal Articles

OTULIN and Muller’s morphs

András N. Spaan
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e20240418.
https://doi.org/10.1084/jem.20240418
Published: 23 April 2024
View article titled, OTULIN and Muller’s morphs
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Journal Articles

A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome

Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, Erik Walinda, Takayuki Tanaka, Masafumi Yamada, Hiroaki Fujita, Shunichiro Takezaki, Ichiro Kobayashi, Sakura Tamaki, Sanae Nagata, Noriko Miyake, Naomichi Matsumoto, Mitsujiro Osawa, Takahiro Yasumi, Toshio Heike, Fumiaki Ohtake, Megumu K. Saito, Junya Toguchida, Junko Takita, Tadashi Ariga, Kazuhiro Iwai
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e20231941.
https://doi.org/10.1084/jem.20231941
Published: 23 April 2024
View article titled, A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome
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Includes: Supplementary data
Journal Articles

Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

In Special Collection:
Autoimmunity 2024 , Innate Immune Signaling: From Host Defense to Disease Pathogenesis
Michael E. Horesh, Marta Martin-Fernandez, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam Youssef, Jacob A. Kurowski, Elizabeth Feuille, Luis A. Pedroza, Ramsay L. Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier, Jérémie Rosain, Georgina Davis, Daniel Mullan, O’Jay Stewart, Roosheel Patel, Angelica E. Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K. Chinn, James R. Lupski, Jordan S. Orange, Vanessa Sancho-Shimizu, Jean-Laurent Casanova, Noura S. Abul-Husn, Yuval Itan, Joshua D. Milner, Jacinta Bustamante, Dusan Bogunovic
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e20232387.
https://doi.org/10.1084/jem.20232387
Published: 02 April 2024
View article titled, Individuals with <em>JAK1</em> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Open the PDF for Individuals with <em>JAK1</em> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis in another window
Includes: Supplementary data
Journal Articles

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

In Special Collection:
Innate Immune Signaling: From Host Defense to Disease Pathogenesis
Camille Cosson, Romane Riou, Danish Patoli, Tingting Niu, Amaury Rey, Marine Groslambert, Charlotte De Rosny, Elodie Chatre, Omran Allatif, Thomas Henry, Fabienne Venet, Florian Milhavet, Guilaine Boursier, Alexandre Belot, Yvan Jamilloux, Etienne Merlin, Agnès Duquesne, Gilles Grateau, Léa Savey, Alexandre Thibault Jacques Maria, Anne Pagnier, Solène Poutrel, Olivier Lambotte, Coralie Mallebranche, Samuel Ardois, Olivier Richer, Irène Lemelle, Frédéric Rieux-Laucat, Brigitte Bader-Meunier, Zahir Amoura, Isabelle Melki, Laurence Cuisset, Isabelle Touitou, Matthias Geyer, Sophie Georgin-Lavialle, Bénédicte F. Py
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (5): e20231200.
https://doi.org/10.1084/jem.20231200
Published: 26 March 2024
View article titled, Functional diversity of <em>NLRP3</em> gain-of-function mutants associated with CAPS autoinflammation
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Includes: Supplementary data
Journal Articles

A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice

In Special Collection:
JEM Clinical Immunology Collection 2024 , Innate Immune Signaling: From Host Defense to Disease Pathogenesis , Neuroimmunology and Neurodegeneration 2024 , Neuroscience Collection 2024
David Brenner, Kirsten Sieverding, Jahnavi Srinidhi, Susanne Zellner, Christopher Secker, Rüstem Yilmaz, Julia Dyckow, Shady Amr, Anna Ponomarenko, Esra Tunaboylu, Yasmin Douahem, Joana S. Schlag, Lucía Rodríguez Martínez, Georg Kislinger, Cornelia Niemann, Karsten Nalbach, Wolfgang P. Ruf, Jonathan Uhl, Johanna Hollenbeck, Lucas Schirmer, Alberto Catanese, Christian S. Lobsiger, Karin M. Danzer, Deniz Yilmazer-Hanke, Christian Münch, Philipp Koch, Axel Freischmidt, Martina Fetting, Christian Behrends, Rosanna Parlato, Jochen H. Weishaupt
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (5): e20221190.
https://doi.org/10.1084/jem.20221190
Published: 22 March 2024
View article titled, A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice
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Includes: Supplementary data
Journal Articles

A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation

In Special Collection:
Thymus, T Cell Development, and Inborn Errors , Immunology Update Winter 2024
Victor G. Lui, Manfred Hoenig, Berenice Cabrera-Martinez, Ryan M. Baxter, Josselyn E. Garcia-Perez, Olivia Bailey, Atanu Acharya, Karl Lundquist, Jesusa Capera, Paul Matusewicz, Frederike A. Hartl, Marco D’Abramo, Josephine Alba, Eva-Maria Jacobsen, Doris Niewolik, Myriam Lorenz, Ulrich Pannicke, Ansgar S. Schulz, Klaus-Michael Debatin, Wolfgang W. Schamel, Susana Minguet, James C. Gumbart, Michael L. Dustin, John C. Cambier, Klaus Schwarz, Elena W.Y. Hsieh
Journal: Journal of Experimental Medicine
J Exp Med (2023) 221 (1): e20230927.
https://doi.org/10.1084/jem.20230927
Published: 14 November 2023
View article titled, A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation
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Includes: Supplementary data
Journal Articles

ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model

In Special Collection:
Neuroimmunology and Neurodegeneration 2024 , Neuroscience Collection 2024
Jung Hwa Lim, Hyun Mi Kang, Dae Hun Kim, Bohyeon Jeong, Da Yong Lee, Jae-Ran Lee, Jeong Yeob Baek, Hyun-Soo Cho, Mi-Young Son, Dae Soo Kim, Nam-Soon Kim, Cho-Rok Jung
Journal: Journal of Experimental Medicine
J Exp Med (2023) 221 (1): e20230367.
https://doi.org/10.1084/jem.20230367
Published: 07 November 2023
View article titled, <em>ARL6IP1</em> gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model
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Includes: Supplementary data
Journal Articles

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition

Charles Bayard, Eleonora Segna, Maxime Taverne, Antoine Fraissenon, Quentin Hennocq, Baptiste Periou, Lola Zerbib, Sophia Ladraa, Célia Chapelle, Clément Hoguin, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christine Broissand, Ivan Nemazanyy, Gwennhael Autret, Nicolas Goudin, Christophe Legendre, François-Jérôme Authier, Thomas Viel, Bertrand Tavitian, Cyril Gitiaux, Sylvie Fraitag, Jean-Paul Duong, Clarisse Delcros, Bernard Sergent, Arnaud Picard, Michael Dussiot, Laurent Guibaud, Roman Khonsari, Guillaume Canaud
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (11): e20230926.
https://doi.org/10.1084/jem.20230926
Published: 15 September 2023
View article titled, Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition
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Includes: Supplementary data
Journal Articles

Inborn errors of human B cell development, differentiation, and function

Stuart G. Tangye, Tina Nguyen, Elissa K. Deenick, Vanessa L. Bryant, Cindy S. Ma
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (7): e20221105.
https://doi.org/10.1084/jem.20221105
Published: 05 June 2023
View article titled, Inborn errors of human B cell development, differentiation, and function
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